UMDF

Quarterly publication connect Volume 19, Issue 4, Fall 2015

Feel, Function, Survive... by Philip Yeske, PhD - UMDF Science & Alliance Officer

ead the title of this article again During the CPIM, information was and commit it to memory, exchanged between these stakeholders because the mitochondrial and the FDA personnel, mainly focused on disease community will be the topics of clinical trial design, selecting hearingR this phrase a lot in the coming outcome measures for those trials, and years as an increasing number of biomarker selection. The single clearest therapeutics are developed. In the United message from the FDA to the audience of States, the Food and Drug Administration this newsletter was “help us understand (FDA) is the regulatory body responsible (CPIM) included patients, caregivers, what feel, function and survive means for approving and monitoring therapeutics. researchers, clinicians and industry - all for your disease community.” One of the Within the FDA the Center for Drug active and engaged in the mitochondrial best ways you can assist in this process Evaluation and Research (CDER) makes disease community. Including others is to register for the Mitochondrial Disease sure that safe and effective drugs are that participated remotely, the total Community Registry (MDCR). MDCR is available to improve the health of people involvement of nearly 90 individuals a tool to identify and characterize every in the US. While safety may be relatively represented the largest group the FDA patient, caregiver and family member easily understood, what makes a drug had ever hosted for such a meeting - that is a part of this disease community. effective? CDER defines effectiveness as great job, community! I was honored to Through MDCR-driven surveys, data ”an essential component of the basis for be able to briefly present in person on will be collected over time that captures marketing approval of a drug; drugs must the challenges of therapeutic research exactly how you feel, function and survive. be safe and effective to justify approval. in mitochondrial disease to the dozen or Effectiveness is defined as a benefit to so FDA personnel that also participated. In future articles, we will explore other patients in how they feel, function, or More importantly, I was able to convey the aspects of the FDA regulatory strategy still survive due to treatment with the drug.” importance of hearing the “patient voice” in development, including the importance in the therapeutic development process. of randomized, placebo-controlled clinical On October 19, 2015, our disease Fortunately, this is a message the FDA is trials and the role of dietary supplements community had a landmark meeting with quite attuned to, as in recent years several as treatments for mitochondrial disease. the FDA that began the process of defining well-organized patient communities have Be assured that UMDF, advocating on a mitochondrial disease therapeutic played an increasingly significant role in your behalf, will do all it can to facilitate regulatory strategy. Participants in the guiding FDA decisions. patient-centered therapeutic development. Critical Path Innovation Meeting With generous support from From the Chairman Contents UMDF News - pages 5 - 7 UMDF Member Stories - pages 9 - 11 UMDF Education - pages 12 - 13 UMDF Symposium - page 14- 23 Adult Corner - page 25

UMDF Development - page 26 - 27 ach year, we gather as a is the first step towards starting the community to raise awareness discussion between the mitochondrial UMDF Events - pages 8 - 30 Efor mitochondrial disease. Some disease community and the FDA for the UMDF Connect - page 31 have the ability and energy to tell their possible design and implementation story before a television camera, radio of effective therapies for mitochondrial microphone or to a print reporter. disease. I’m very proud that UMDF and Board of trustees Others use their energy to hand out several of our top medical experts were Patrick Kelley - Chairman information at health fairs, churches, invited to participate in this very important W. Dan Wright - Vice Chairman schools, and to physicians and clinicians. initial step for the benefit of the entire Some activated their mitochondria by community. John A. DiCecco - Treasurer participating in an Energy for Life Walk, a Brent Fields - Secretary 5K or a 10K run or walk. Thousands took And finally, I would like to thank all of the John Kieffer - Trustee-at-Large to social media to share their personal people who submitted fantastic artwork Bruce H. Cohen, MD stories or information about mitochondrial for the 2015 UMDF Holiday Appeal. I Sumit Parikh, MD - SMAB Chair disease. No matter how you participated know it was an incredibly difficult Hooper Hardison during the third week of September, the decision. According to the poll taken word is getting out. You were successful on Facebook, the artwork designed by Richard Leach is answering the question “What is Sarah Batalka, of Quakertown, PA, was Sharon Shaw Reeder - Member Liaison Mitochondrial Disease?” We know this chosen. We will have limited copies of Tyler Reimschisel, MD because that was the number one hit on this card on sale for the holidays and Debra Schindler-Boultinghouse www.umdf.org the week of September 20, the artwork will be used in the UMDF Charles A. Mohan, Jr. - Chair Emeritus 2015. Annual Holiday Appeal. It is my hope that you will consider a donation to help us In this issue of UMDF Connect, you can continue our mission. Scientific & Medical Advisory Board read about all of the events and activities Sumit Parikh, MD - Chairman that happened --- and just so you know, I wish you the best as we move towards William Craigen, MD, PhD your efforts helped us reach more than the holiday season. 2016 will be a big Marni Falk, MD 30,000 people on social media this year! year for the UMDF as we approach our Amy Goldstein, MD Great job! 20th Anniversary in April. Look forward to Andrea L. Gropman, MD, FAAP, FACMG many exciting developments in the year I also want to call your attention to the ahead. Richard H. Haas, MB, BChir article written by UMDF’s Science and Marcia Haigis, PhD Alliance Officer, Philip Yeske, PhD. A Carla Koehler, PhD few weeks ago, Dr. Yeske was part Dwight Koerbel, MD, PhD of a meeting in Washington, DC. The Mark Korson, MD meeting was entitled “Mitochondrial Giovanni Manfredi, MD, PhD Disease Critical Path to Innovation” and was organized by the Food and Drug Robert McFarland, MBBS, PhD Administration (FDA). This meeting Patrick Kelley, UMDF Chairman Gerard Vockley, MD, PhD Kendall Wallace, PhD Richard Youle, PhD UMDF Connect | Fall 2015 3

advocacy

Congressional Caucus Update

Dr. David Schubert discusses Stealth Biotherapeutic’s current clinical trial for mitochondrial myopathy before the Congressional Mitochondrial Caucus.

he United Mitochondrial Disease Cardiac mitochondria normally function mitochondrial disease patients, but for Foundation held its seventh as the powerhouses of the cardiac cell, cardiac patients in general. Bendavia Congressional Caucus briefing metabolizing fuels to provide energy may benefit dysfunctional mitochondria for lawmakers on October for the heart. However, during a heart with the therapeutic potential to modify 20,T 2015. The briefing focused on attack, cardiac mitochondria shift their disease and improve patient outcomes mitochondrial dysfunction and cardiac role and become agents of cardiac injury in diseases, including heart failure, issues. and cell death. His research has found kidney disease, cardiovascular disease, in experimental models that a blockade neurodegeneration, and certain skeletal Speaking at the session was Edward of mitochondrial function during a heart muscle. The briefing was another in a Lesnefsky, MD, of Virginia Commonwealth attack, when mitochondrial metabolism series to help Congress understand the University and David H. Schubert, Vice leads to cell death, can actually improve implication of mitochondrial dysfunction in President, Regulatory & Quality for Stealth functional recovery and decrease cardiac other well known diseases. Biotherapeutics. Dr. Lesnefsky’s current injury. This could hold the potential to research interests involve the study of reduce the extent of cardiac damage and UMDF’s role in educating elected officials the mechanisms of myocardial cell death improve the outcome of heart attacks in about these scientific links has become during heart attacks and their treatment. the high risk elderly patient. more urgent. If we can breakthrough and The focus of his laboratory is the study of unlock the secrets to prevention and cures the role mitochondria in the progression of Dr. Shubert discussed the mitochondrial for mitochondrial disease, it would truly be cardiac cell death during heart attacks and myopathy clinical trial for Bendavia a game-changer for millions. treatment. that Stealth Biotherapeutics has underway, not only its implications for

UMDF Connect | Fall 2015 5 &

are proud to support UMDF in the ght against Mitochondrial Disease.

Visit www.epic4health.com for all your CoQ10 needs activate

Spotlight: Unstoppable Nina Hall

ina Hall is a precocious and This past October the Hall’s were able to tenacious three year old; like see the fruition of their efforts, On Sunday Nmany other kids her age, she October 4, 2015, Team Unstoppable Nina loves all things Disney. In 2013, her participated in the Boulder Rez Marathon. parents, Michael and Amy, received From that race the family exceeded some devastating news: Nina had Leigh’s their $100,000 goal! UMDF Director of disease. Michael and Amy started looking Development Beth Whitehouse was in into any and all possible options for their attendance to cheer them on at the finish daughter. These options included clinical line. “It was a wonderful and humbling trials, as well as setting up a research fund experience to be part of Unstoppable for Leigh’s disease through the UMDF. Nina Hall’s event this year,” said Beth. Now, the Hall family is not only helping “The outpouring of support from family, Nina, but so many other people around friends and the entire community was truly the world. remarkable. Huge thanks to Amy, Michael and Nina for their efforts in making this The Hall family had set a lofty goal to event a reality.” raise $100,000 for Leigh’s research. Today they have not only reached that The Hall family is not going to stop goal, but completely surpassed it! The here. They will continue to run for those journey to reach their goal was one filled who can’t, and raise funds to help with endurance and love. Endurance all those affected by mitochondrial quite literally, the Hall family wanted to disease. “We desperately want to see combine their love of the outdoors and further progress made toward additional endurance sports into a fundraiser for their treatments, and maybe even a cure, for research fund. This led them to the UMDF The very first event the Halls ran raised Nina and the thousands of children and program “Activate Your Mitochondria.” over $37,000, thanks to special members families affected by Leigh’s and other This platform allowed them to form a of their team; Matt Bain, Eric Boyle, mitochondrial diseases, now and in the team with their friends and family to run Bobby Moelter, Michelle Conlon, and Kim future. While we are ultimately looking marathons all over the world (They have a Siragusa! The Halls were well on their way to raise funds, we are also hoping to family friend living in Japan who runs and to achieving their goal. generate energy and momentum for many fundraises for them!). races and events to come. We welcome anyone willing to join our team!”

UMDF Connect | Fall 2015 7 Stealth BioTherapeutics is committed to the development of therapies for mitochondrial disease and proudly supports the advocacy efforts of the UMDF

To learn more about our work, please visit StealthBT.com or follow us on social media:

@StealthBT Stealth BioTherapeutics activate

Hiking to Raise Awareness by Tara Maziarz - UMDF Development Associate

his summer, a feat of amazing outdoors-y guy and human endurance took place about two weeks into right in the UMDF’s backyard. the trek he suffered terrible shin splints. His TAdam Kohr, a Harrisburg native goal was to walk 25 transplanted to Chicago, hiked from his miles a day, and as the new hometown to his old hometown. He journey progressed he walked a whopping 645 miles. The hike travelled between 28 to wasn’t just a feat of strength; it was an act 36 miles a day! of brotherly love. The other very Adam’s brother, Andy, was diagnosed challenging aspect with mitochondrial myopathy at age 14. As was the lack of human Adam Kohr and Tara Maziarz at the UMDF office in Pittsburgh the Kohr brothers grew up, they did many interaction. He missed things together. It wasn’t until a few years his girlfriend of 10 years Adam’s family and friends all joined him ago that Adam realized how badly the terribly. At the end of every day, it was to walk his last mile. The most amazing mitochondrial deterioration was affecting a relief, knowing he could rest and take feeling was seeing his brother, girlfriend, his brother’s life. Last year, their mother a break, but he realized this is how his and family members there for him at the ran the Chicago Marathon, prompting brother feels every single day, and doesn’t end. Adam to think of ways that he could get to choose when he can take breaks. help his brother and others affected by A year ago, Adam never thought he mitochondrial disease. As the days went on, he learned some could accomplish something like this, tricks. For example, he figured out pushing now he has the amazing memory of a That was when a crazy idea popped into a cart with all of his gear was much easier journey he will never forget. Adam wants Adam’s head: he was going to walk from than carrying it in his backpack. Many to encourage everyone to research Chicago to Harrisburg - 645 miles - a total people he met thought he was homeless; something they don’t know anything length of 27 marathons. He trained for the some even called law enforcement on about, and then help someone with your next six months for the walk. him! Folks in Pennsylvania thought he new knowledge. was one of the escaped convicts from the On June 15, 2015, Adam set out on the prison in Upstate New York. There were For more of Adam’s story, visit adventure of a lifetime. Fortunately, his a few people that opened their homes to www.thefutureof645.com. employer, Cutter Studios, gave him a him once they learned about his story. month off of work. Along with one of Those people even stayed in touch with his friends, Adam started his epic trek. him after his journey! On his trip, he only Although the friend only made it three met one person who actually knew what days into the trip before he had to pack mitochondrial disease was - a doctor that up and go home, Adam continued on. was biking in Pennsylvania. As Adam will tell you, he is not the most

UMDF Connect | Fall 2015 9 members

Through Mito Eyes: Birthday Wish by Liz Kennerly

very year, in early December, I close my eyes, make the Yes, the patient voice! The FDA now hosts public webcasts same silent wish and blow out the candles on my cake. asking patients for their input. Their ideas of what the patients EThe number of candles increases every year, but my need and want could be different from those living with or caring optimism has never faded. My optimism has actually increased. for those with the condition. A cure is always the clear end goal On May 21st, a bill known as the 21st Century Cures Act was with any rare disease, but sometimes we need the most help with passed unanimously in the House Energy and Commerce one specific symptom of the disease. Committee. It went on to pass in the House 344-77. That light at the end of the tunnel is now brighter than it has ever been. I want a cure for Mitochondrial Disease, but the metabolic crashes are my primary concern. As a parent from one of the I cannot tell you my wish, but it’s probably very similar to others webcasts said, “We aren’t waiting for the Queen Mary. We are in my shoes. It doesn’t have a price and it will change many, just looking for a life raft.” This will also speed up the clinical many lives for the better. This is almost like the old MasterCard trials process! It currently takes 13-15 years for new drugs to commercials. Doctors appointments: X dollars. Medications: get from the lab at the pharmaceutical company to our pillboxes. Y dollars. Traveling to and from appointments: Z dollars. But, The EPI-743 and others in trials for mitochondrial disease are for everything else: there’s science and hope. Everything has only moving as fast as they are because they meet certain criteria monetary value, but the end result can’t be bought like other set by the FDA. They serve an unmet medical need: treatment things. for a disease where no current therapy exists.

Up until recently, there wasn’t a single pharmaceutical This bill would also help with the design of mobile apps! I don’t company that expressed interest in Mitochondrial Disease. know about my other dysautonomia friends, but I would love to This changed with Edison Pharmaceutical Industries and their ditch my “dinosaur” blood pressure cuff! Maybe a smaller cuff to one drug currently in FDA trial, the EPI-743. This drug has fit around my index and attach to my phone. produced significant improvements. It is a true miracle drug! There are three other companies in the U.S. - Raptor, Stealth This bill, HR6, hits a personal note. I’ve known the man who BioTherapeutics and Reata - now in the Mitochondrial Disease wrote it for a very, very long time. He is my former Congressman, space. These clinical trials have broader inclusion criteria and and it is really special that I’m in a position to advocate for it this include those with Mitochondrial Myopathy, instead of a single measure. specific mutation or disease underneath the Mitochondrial Disease umbrella like Leigh’s and Alper’s Disease.

Liz Kennerley earned her BA in Society & Health from Simmons College in Boston I’ve been posting a lot about the 21st Century Cures Action MA. She also majored in Sociology and minored in Psychology as well as Music. social media. This will be huge for everyone if it becomes law! She shared her patient perspective at UMDF’s first congressional caucus briefing I’m hearing a bit of Schoolhouse Rock. This is not “just a bill on in 2013. She currently lives in Solebury, PA. Capitol Hill,” it will increase both NIH and FDA funding. It will also incorporate our voice in the drug development process.

10 UMDF Connect | Fall 2015 members

Meet your UMDF Ambassadors

he UMDF is about coordination, communication and collaboration; Tcoordinating our efforts and resources, communicating our needs and abilities and forming collaborations to bring information, patients, medical professionals and resources together to enhance progress for treatments and cures.

UMDF Ambassadors are an essential part to those efforts. They are a resource for members seeking to gather information. They coordinate efforts with other members to make a difference in their local areas, and they are key collaborators with the UMDF regional and national staff. We’d like to introduce one of our UMDF Ambassadors: Barb Yarina of Ferndale, MI.

If you would like more information about the UMDF Ambassador program, please contact us at [email protected]. Barb (center), with her husband Steven (left) and son John (right)

How long have you been an Ambassador with the UMDF? As you know, mitochondrial diseases are very challenging. Barb: I joined the Ambassador program in July of this year. What advice would you give to a newly diagnosed family? Barb: First, take a big deep breath, fasten your seatbelt securely How are you connected to mitochondrial disease and the because the roller coaster ride you are on will have more hills and UMDF? valleys than you think you can handle. I always recommend they Barb: Our son, John, is suspected to have mitochondrial disease. get and read the book “Living Well with Mitochondrial Disease”. I They believe he has partial CPT2 and something else. We call it also tell folks to read the UMDF web site because there is a lot of “John Syndrome” because that’s what all the doctors say when information there. I tell patients, especially Moms, to trust your they review his records. Lows should be high. Highs should be gut. You have your God-given Mother’s intuition that something low. Nothing makes sense but in a quirky way over time they do. isn’t right. Trust it to guide you in seeking care for your child. Finally, I tell them to ask questions, don’t be afraid to ask any How are you active as a UMDF Ambassador? question. Especially on Facebook, if the people on Facebook Barb: I’ve handled requests for more information and support don’t know the exact answer, they know someone who does and from new members. I manned the Mito information booth at the they will connect you to the resources you need. Detroit Energy for Life Walk in September. I check the UMDF Facebook page daily to see if there is anything positive I can The UMDF will be recognizing its 20 year anniversary next contribute to help those asking questions. John’s been ill all his year. If you could give one piece of advice to yourself 20 life and mitochondrial disease affects all of his body systems. I years ago, what would it be? , feel I’m pretty fluent in the testing people are asking about or the Barb: Be confident to speak up and ask questions. Now, I don’t symptoms they are seeing. care if I get labeled as that annoying Mom. Advocate for your child because they are counting on you. You know your child During your time as an ambassador, what has been the most best. rewarding? Barb: Seeing all the families at the Energy for Life Walk. It was a reminder that our family is not on this journey alone.

UMDF Connect | Fall 2015 11 education

At UMDF’s home base in Pittsburgh, the Gulf Tower, an iconic downtown skyscraper, was lighted green.

Awareness Week 2015

ith hundreds of activities around the country, the UMDF, along with affected individuals, families, friends and coworkers, celebrated Mitochondrial Disease Awareness Week September 20-27, 2015. W More than 17,000 informational pieces were sent from the UMDF office to those who participated in week-long events. Events to raise awareness of mitochondrial disease ranged from classroom education for students to physician education by patients. Additional Awareness Week events included educational presentations at malls, hospitals and churches.

Awareness was spread throughout the media. Many patients and families managed to have local television stations and newspapers interview them about mitochondrial disease and their personal stories. Social media was abuzz with news about Mitochondrial Disease Awareness Week, with posts circulated by UMDF and shared across Facebook and Twitter. We reached more than 32,000 people!

RoseMary Wasielewski spread awareness at a health and wellness fair at Prairie State College near Chicago.

12 UMDF Connect | Fall 2015 education

Linda Roesch, a UMDF Ambassador in Western New York, spread awareness at a health expo in Buffalo.

Thank you to the brave men and women of Ceres, CA., Firefighters Local 3636 for your support of Kenley and the UMDF and for raising awareness for those who are battling mitochondrial disease.

At UMDF’s home base in Pittsburgh, the Gulf Tower, an iconic downtown skyscraper, was lighted green.

Samantha Lee helped her mother, Elizabeth, set up a “Mito Awareness” table at her father’s work. Samantha lost her older brother a year ago. He had POLG1, and the family walked in his memory Mary Schafhauser, sister of EFL: Minnesota co- at the Energy for Life Walk n Charlotte on October 17. chair Sara Schafhauser-Wright, is in the Peace Corps in Mongolia. On August 8, she wore her “Leo’s Lions” team shirt and participated in EFL: Minnesota “virtually” from Mongolia.

Energy for Life sponsor, The Texas Chili Company, donated tickets to our Southern California UMDF families to attend the Anaheim Angels game on September 26.

UMDF Connect | Fall 2015 13 education

Three C’s to a Cure by Chuck Mohan - UMDF CEO/ED

he UMDF mission is to “promote research and with many patient groups, clinicians and researchers from education for the diagnosis, treatment and cure of academic institutions and health care facilities across the US. Tmitochondrial disorders and to provide support to We have sponsored 17 international symposia at strategic affected individuals and families.” In order to meet the locations across the country. UMDF symposia has been a goals of our mission, we are committed to coordinating our primary gathering place for mitochondrial experts and those efforts, communicating our needs and collaborating to build interested in learning more about mitochondria from around relationships and capitalize on our combined talents and the world. This coordinated exchange of information has resources. been and continues to be invaluable.

Coordination - the organization of the different Communication - Sydney Harris said, “Communication elements of a complex body or activity so as to enable them and information are often used interchangeably, but they to work together effectively. signify two different meanings. Information is giving it out and UMDF continues to reach out to other patient advocacy communication is getting it through.” groups, academic institutions, health care facilities and The UMDF Trustees and staff are very interested in industry partners identifying similar goals and interests. getting accurate and important information to you, and We firmly believe that our similarities are greater than our we know it is also important for you to be able to convey differences. We need to know who is working on what, accurate information about UMDF and mitochondrial disease and who is interested in any of the many components of to your family and friends. Our website contains the most up mitochondrial function and disease. In my roles as Co- to date and accurate information on mitochondrial disease Chair of the Coalition of Patient Advocacy Groups (CPAG) and current “happenings” in the world of mitochondrial and Board member of the National Organization of Rare medicine, such as clinical trials. Our website currently Disorders (NORD), I have the opportunity to connect with get 23,000 visitors each week, and our membership in the and build professional relationships with many other patient International Mitochondrial Patients group enables us to groups involved with similar missions. UMDF is also a communicate with other patient groups and researchers from founding member of the International Mitochondrial Patients around the world. group (IMP) which is a global organization consisting of UMDF has created the first-ever Congressional Caucus mitochondrial organizations from 12 countries. on Mitochondrial Disease. The caucus is focused on Over the years, UMDF has had the opportunity to work educating members of Congress about the importance of

14 UMDF Connect | Fall 2015 education

funding research on mitochondrial disease. To date, we (NCATS). This relationship has enabled UMDF to have have presented to over 400 Congressional representatives. a “seat the table” to various NIH and FDA meetings and UMDF continues its Congressional communication by events when they are seeking input from the rare disease sponsoring UMDF Day on The Hill. In three sessions, 670 community. UMDF members met with 319 members of Congress and UMDF has developed and implemented a patient 162 members of the Senate. populated database and is making it available to the entire UMDF has the only Grand Rounds program focused mitochondrial community. The Mitochondrial Disease solely on mitochondrial disease. To date, we have Community Registry (MDCR) currently has over 1100 sponsored mitochondrial experts to present to over 4000 registrants and is being offered to other mitochondrial medical professionals at hospitals across the country. groups across the country and around the world. We are excited that the Leigh’s Disease Clinic at Hermann Memorial Collaboration - a working practice whereby individuals Hospital, under the direction of Dr. Mary Kay Koenig, is work together to a common purpose to achieve business the first to take advantage of this benefit. There is now a benefit. separate Leigh’s Disease portal to MDCR. This collaborative UMDF continues to foster relationships with our patient, effort is being promoted by the patient group “People Against academic and industry partners. We continue to partner Leigh’s Syndrome” (PALS). and support the North American Mitochondrial Disease Collaboration and communication with our industry Consortium (NAMDC). This consortium consists of 16 partners is identifying numerous companies interested in institutions across the US committed to finding treatments mitochondrial disease. We are currently collaborating and and cures for mitochondrial disease. coordinating with five companies in the pre-clinical stage and We support and administrate the efforts of the four in actual clinical trials and have identified an additional Mitochondrial Sequence Data Resource (MSeqDR). This is 30 companies involved in early drug discovery. an open source database that contains sequenced genomic data enabling researchers to look for variants which could The three C’s; Coordination of efforts, Communication of improve their ability to diagnose. needs and Collaboration to build relationships and capitalize We work closely with the National Institutes of Health on our combined talents and resources will pave the road to (NIH), Office of Rare Disease Research (ORDR) and the the fourth and most important “C” – Cures! National Center for Advancing Translational Science

UMDF Connect | Fall 2015 15 members

UMDF Holiday Card Contest

he United Mitochondrial Disease Foundation is pleased and many medications, as Mito affects most of her organs. to announce the winner of our 2015 Holiday Card Art Through art, Sarah has found a way to transcend the pain and TContest. The artist is Sarah Batalka of Quakertown, PA. restriction of her life. She has used her artistic talent to raise Sarah is self taught and has been drawing for as long as she awareness for Mitochondrial Disease via social media, and she’s can remember. Her love of realism can be seen in the details been a long-time member and supporter of the UMDF, which she meticulously renders in her work, which covers a variety promotes research and education for the diagnosis, treatment, of subjects including animals, still life, landscapes, florals, and and cure of mitochondrial disorders. portraits of pets and people. We will have a limited supply of Sarah’s Holiday Cards on sale in Sarah has early childhood onset Mitochondrial Disease. She is the UMDF Store. You can visit at www.umdffundraiserstore.com power wheelchair dependent/bedbound, requires daily life- sustaining IV’s, noninvasive ventilation, supplemental oxygen,

16 UMDF Connect | Fall 2015 education Ask the Mito DocSM

iving with mitochondrial disease presents many twists and turns, and a maze of questions. UMDF is pleased to offer answers to some Lof those questions as taken from Ask the Mito DocSM at www.umdf.org. Please note that information contained in Ask the Mito DocSM is for informational and educational purposes only. Such information is not intended to replace and should not be interpreted or relied upon as professional advice, whether medical or otherwise.

I have a paternal aunt, my father’s sister, who had two I have heard gabapentin was recently found to be mito Q:children with very, very severe mitochondrial disease Q:toxic. Any validity to that? Also, are there any laxatives or (feeding tubes, seizures, mental retardation, no ability to walk, stool softeners that are as well? I’d heard there was one laxative etc.). My aunt said the closest diagnosis was mitochondrial named recently but can’t recall what it was and want to be safe cytopathy. At the time (1985), after the birth of her first child, a should these last two things be recommended. son, the doctors deemed it a fluke that wouldn’t happen again. My aunt had her second child two years later, a girl, who had While many medications may theoretically have some the same disorders as the first child. The doctors told them it A:mitochondrial toxicity, it does not automatically mean that must be the combination of my aunt and her husband’s genes they are not safe to use in a patient with primary mitochondrial but was unlikely to happen a third time. I don’t know what type disease or secondary mitochondrial dysfunction. The current list of mutation she/my uncle have. My dad had three daughters of medications that might need to be avoided is relatively short (including me) who have no mitochondrial issues. My dad has and even these are not absolute contraindications (meaning, we two other sisters (same parents as the sister with the children may use them cautiously in mitochondrial patients when needed with mitochondrial disease) who each had children (sons) without and no other or better options are available). any signs of mitochondrial issues. I am trying to assess if I am Gabapentin is generally well tolerated in mitochondrial at risk for bearing children with this disease. Is there any genetic patients, though it does have a side effect of creating sedation testing I should undergo to assess my risk prior to becoming or fatigue in any patient who takes it. Glycolax/Miralax is a stool pregnant?” softener that is generally safe to use in mitochondrial patients. You should speak with your physician prior to taking any of these I’m sorry to hear about the severe mitochondrial disease to ensure they are safe for you. - Sumit Parikh, MD A:diagnosed in your aunt’s children. Most mitochondrial disorders in children are inherited in an autosomal recessive form, meaning that both parents (who are normal) carry an Our son (age 15) has Complex III. It has been discovered abnormal dysfunctional gene related to mitochondrial function. Q:that he also has a tumor on his pituitary gland. He has In order for disease to manifest, a child needs to inherit two been experiencing bouts of incontinence and bowel control abnormal copies of the gene, one from the father and one from issues. We are at a loss. Any suggestions? the mother. The recurrence risk in such families is 25% or a 1 out of 4 chance for each subsequent pregnancy. In other words, Thus far, the only link between pituitary tumors and the risk to have an affected child if the parents carry an abnormal A:mitochondrial disease has been the finding of mutations gene is high. Please note that this type of inheritance is different in SDHD in a family that presented with a pituitary adenoma that the maternal inheritance that occurs in families who harbor a secreting growth hormone and familial paragangliomas. mutation in mitochondrial DNA. Mutations in SDHD are associated with complex II deficiency It is possible that your father is also a carrier for an and not complex III deficiency. Perhaps the pituitary tumor is abnormal gene that affects mitochondrial function, but it would not connected with mitochondrial dysfunction or disease in this be unlikely (but not impossible) for your mother also to be a case. Has he been seen by an endocrinologist? If he has issues carrier for a deleterious mutation in the exact same gene. In other with bladder and bowel control, he may need to be seen by words, your risk to have a child with mitochondrial disease is a neurologist to assess for dysautonomia. I hope this helps. - low given your family history. In order to provide more precise Fernando Scaglia, MD, FACMG counseling, however, it would be necessary to know the exact gene that is involved in causing disease in your family. This would typically be done by performing DNA analysis on a large number of genes known to be related to mitochondrial function in the You can quickly and easily find “Ask the Mito Doc” Q/As on topics of your affected children, but there is no specific test for you or your choice by going to the UMDF home page at www.umdf.org. Go to “Find husband at this point. Support” and click on “Ask the Mito Doc.” Click on the search “Ask the Mito I think it would be a good idea for you to discuss this Doc” link; this will pull up a search box. Type in a keyword or phrase you are further with a prenatal genetic counselor, who would be able to interested in and click “Go.” The search engine will pull up every Q/A that explain the genetic implications of your family history in further mentions your word or phrase. If you are not satisfied with the results, try detail. - Greg Enns, MD, ChB variations or synonyms of your word/phrase.

UMDF Connect | Fall 2015 17 adult corner AACT Update

or this newsletter, we asked all members of AACT to share a tip that they find helpful. Below are the tips we received from AACT board members: F Please check with your physician or medical prescriber before changing or adding any medications or supplements. Tip Topic: Headache Relief Tip Topic: Muscle Pain Relief Tip Topic: Stress Relief  Peppermint oil is great to rub  Many of us have deep muscle  We must remember that stress of on your temples or the back of your pain, especially at night. For me, it’s any kind can be hard on those of us with neck for some relief. You can also buy mostly in my quadriceps and in my mitochondrial disease. Practice the art peppermint balm it looks like a tube tibialis anterior muscles. In my case, I of taking “minute vacations” from the of lip balm, not as messy as oil. I also have never found that NSAIDs help with current stressful situation. Even sitting keep a gel eye mask in the freezer-very this. Usually, a hot bath with Epsom too long in one spot is stressful. Get up soothing! salts or Dead Sea Salt helps - and it’s and move around. Need a break from Kailey Danks – Toronto, Canada not unusual for me to get into a hot soak mental stress? Have a quiet corner at 2:00 am, after I’ve given up on trying where you can meditate. Relax with to go to sleep without it. I mix Epsom calming music. These small changes Tip Topic: Travel Advice salts with eucalyptus oil and peppermint can be very worth putting into practice.  I have to travel for my job oil sometimes. Or sometimes I take a Joy Krumdiak – Washington internationally & domestically, and one shortcut and buy this: http://www.cvs.com/ tip I have involves travel: I have a definite shop/beauty/bath-body/bath-salts-soaks/cvs- regimen and routine when at home muscle-relief-mineral-bath-salts-skuid-699289 . Tip Topic: Relaxation Technique because of all the meds/supplements/ On rare occasions, even hot baths don’t  I start my day before getting out of exercise I have to do to stay fit enough help, and the ache seems to go deep bed with 10 deep slow breaths (in through to work. When I travel, I do what I can into my bones. When that happens, the nose and out the mouth) and end my to KEEP the routines, even when it is I sometimes find relief with arnica - day with the same breathing routine. inconvenient and difficult to do. This is either a homeopathic mixture or the Terry Livingston - Florida especially true for the meds/supplements/ commercially available Arnicare cream: exercise part. It is easy to get out of the http://www.cvs.com/shop/health-medicine/pain- routine and let it go (although sometimes fever/joint-muscle-pain-relief/arnicare-pain- Tip Topic: Energy Boost you have to) but, to the degree I can, I try relief-gel-skuid-833266. I am sure there  My mito specialist prescribes mega and keep it up. It really makes a difference are other brands and sources for both lipodoses of “energy” supplements. I when I don’t. In addition, I have to pre- of the over-the-counter products that I take 1200 mg CoQ10; 2 mg Folic Acid; medicate while traveling (e.g. Imodium) to mentioned. By no means am I endorsing 300 mg Alpha Lipoic Acid; 300 mg keep the anxiety and symptoms in check. these brands over others. Levocarnatine; 4000 mg Ribose; 2500 Hope that helps! Christy Koury – North Carolina mg Creatine Monohydrate twice a day. Whit Davis – Pennsylvania This helps me a lot to make it though the day energy-wise! Deb Makowski – Arizona

Adult Advisory Council Team (AACT) Purpose of AACT Jennifer Schwartzott, AACT Chair, New York Christy Koury, North Carolina To represent and serve the unique needs of the Gail Wehling, AACT Co-chair, Illinois Joy Krumdiack, Washington affected adult community and to ensure that those Devin Shuman, YA Coordinator, Washington Terry Livingston, Florida needs are adequately represented to UMDF resulting Kailey Danks, Canada Deb Makowski, Arizona in enhanced services to the affected adult population. Whit Davis, Pennsylvania David McNees, Ohio Rev. David Hamm, Maryland Sharon Shaw Reeder, California AACT is a liaison to the UMDF Board of Trustees Pam Johnson, MD, Missouri/Kansas Gregory Yellen, Maryland whom will assess and evaluate, provide advice and Medical Advisors: guidance, and make recommendations to UMDF on Bruce H. Cohen, MD Amy Goldstein, MD all adult-related issues and needs.

18 UMDF Connect | Fall 2015 adult corner

AACT Council Members Appeal

urrently, there are over 300 Tip Topic: Muscle Pain Relief Tip Topic: Attitude, Behavior, mitochondrial-related clinical As my diagnosis was becoming Perception, Response   trials and studies ongoing clear in 2011, I just happened to be Our list of symptoms and navigating all we C worldwide. What an exciting and working with Zen Buddhist teacher do is not always in our control as the very pivotal time. Thich Nhat Hanh on the Mindfulness nature of this disease is progressive. in Education movement. My study We take action to control, stabilize, It begins with us and it is now up to us, of meditation and mindful thinking monitor and improve all we can physically. the mitochondrial community, who have deepened tremendously. We all know But for me, without the practice of battled this disease for so long to take the personally devastating factor of mindfulness, physical management alone the first step. Otherwise, we will not intense muscular or nerve pain: it can is not enough. I live by Wayne Dyers quote reach our goal - finding treatments and consume you. When the pain takes “Change the way you look at things and cures for mitochondrial diseases. over, the amygdala is hijacked into a things you look at will change”. I call it state of sympathetic response. The a “reality check” and ask myself these So, please take the first step and go resultant fear response makes us worry questions as I too navigate the changes in to the UMDF website to read about and fret about the future. Living with my body that are out of my control: current clinical trials and studies pain on the horizon puts us into a space seeking participants. where we must look ahead constantly • “I sure know my opinion and how I feel to avoid the feeling that we recall, the but can I imagine what is it like for the We are in this fight together. Now, echo of past pain. This takes us out of other person?” please become a part of the path that mindful present moment which, I • “What is the underlying lesson for me in toward its cure. Thank you. believe, is the only moment that we can this tough situation, other than the outer actually have affect. We desperately try obvious?” Many of us have participated or are to find homeostasis with a myriad of • “How can I bring my best anyway when currently participating in a clinical additives: enzymes, vitamins, painkillers, I am feeling my worst?” trial or study. If you have questions etc; but it is vital that we utilize our • “How can I make things better even about participating in a clinical trial or own natural ability to support our when they aren’t?” study, we would be happy to share our parasympathetic system as well. With • “Am I on my side no matter what?” experiences with you. Please contact much practice, I have been able to bring • “Feelings are important and expressing us at [email protected]. myself to a state of mindfulness amidst them in a healthy way is crucial but the pain. With a focus on my breath, feelings aren’t facts, they are feelings” and a practiced meditative state that • “Am I listening to where my energy is at expels thoughts about the past or future not what I want to get done?” (really, no thoughts at all), I am able to • “Why am I pushing myself beyond help my body control the pain. Whether my physical ability, what am I trying it’s as serious as rhabdomyolysis, or the to prove that’s more important than AACT WEBINAR electrical storm of somebody cutting honoring where I am at?” me off on the road, or just the muscular • “How can I love and support myself the RECORDED burning and exhaustion from a flight of most? What does this look like? What stairs, I try to give myself four or five (or changes can I make to get here?” On Wednesday, October 28, AACT a hundred) breaths to bring my body, • “Have I been kind and loving today, no Medical Advisor, Dr. Bruce Cohen, mind and spirit back to each other. And matter what?” conducted a webinar for Adults & it has made all the difference. My tip for Young Adults entitled: “Current dealing with pain? Just breathe. I know When faced with life altering information Therapies and Treatments in the that sounds a little preachy and simple. we can let it control us or we can take Mitochondrial Disease in the Adult But simple is good in the complexity of charge and make a difference not just Patient” what we’re dealing with. Have faith in for ourselves but for others. I believe we yourself, and that there is still something are given the hand that is dealt but how This webinar was recorded and is inside of you that can control this thing, we play the cards is up to us, and when available on the UMDF website. You if even for a moment of peace. Practice played well, our actual response can be may watch or listen to this webinar mindfulness. Breathe. more powerful and empowering than the and other webinars we have recorded David McNees – Ohio cards dealt! by visiting www.umdf.org/AACT. Sharon Reeder – California

UMDF Connect | Fall 2015 19 xxxxxxadult corner

Tip Topic: Create a Journal Tip Topic: Eye Care rose/pink, orange or yellow lenses (no  Creating a medical journal can be  Many of us have cornea exposure ‘blues’ in them.) What an immediate great for tracking symptoms but also for (keratopathy) due to our associated and remarkable difference these lenses tracking energy levels. Monitoring energy mitochondrial disease that can cause pain, can make with the same UV protection. levels after big events can help you affect vision, and become chronic that can Visual field “pops” and brightens which understand your limits. Though even with lead to serious complications. Following provides much better clarity, even on the best tracking, energy levels can be are some tips that can help alleviate, cloudy days! Hope you give them a a rollercoaster, so make sure you stay in stabilize, and keep your eyes as healthy as try. Literally, you will see a dramatic tune with how you are feeling. possible. difference! Devin Shuman – Washington • Eye Drops: Best to use artificial Gail Wehling - Illinois (AACT Young Adult Coordinator) tears and/or lubricating drops. Use them often! They are harmless and can provide great relief. Plus, helps Tip Topic: Heart Warning remove pollens, etc, from irritating Tip Topic: Garlic  My tip was learned the hard eyes. Once applied, close your eyes  Garlic can provide many health way. As many of you know, cardiac and using your lower eyelids, gently benefits. I was diagnosed with problems are common with mito. I see push upward and massage in. There Blepharitis (inflammation of the eyelids a cardiologist every six months and are many very good name brands, or eyelid margins), and after consulting have regular EKGs, echos and even a including preservative free (don’t sting with my local health store, I began taking stress test. I started having heartburn or burn) and thicknesses. Buy smaller garlic supplements (2600 mgs) daily. and they treated me for GERD. Then bottles or ask your ophthalmologist for Soon, thereafter, it completely cleared I started having chest pain and they free samples to see which works and it up. treated me for costochondritis/muscle feels best. Gregory Yellen – Maryland pain after the tests were normal. My • Humidifier: Best to use a warm mist poor lung function was mito or asthma. I humidifier that can provide moisture, told all my docs about the pain shooting especially helpful if live in a dry climate down my arms and in my jaw. They and/or during dry winter months. thought muscle and nerve. When the • Warm Steam: While in the warm pain got severe, I went to the hospital shower and/or steam sauna, close and was sent home when the EKG and your eyes and using your lower eyelid, other tests were normal. After another gently push upward with a towel and ER visit, a doctor ran my troponin massage eyes (like with eye drops); do levels which were very high. I was several times. Amazing how quickly admitted to the ICU and scheduled your eyes will feel better. for the Cath Lab. I was having a heart • Eye Hygiene: Daily, clean eyes/eyelids attack, probably not my first, and the area thoroughly - A.M. & P.M. EKG was normal. My main artery was • Sunglasses: To help protect and 99% blocked (my cholesterol is only prevent sun eye damage, wear borderline). I now have a stent and am sunglasses throughout all daylight lucky to be alive. The heartburn, pain hours and on partly cloudy days. Also, and poor lung function are gone and I many of us have photophobia (painful have more energy. I knew something light intolerance) with related retina was wrong and was vocal about it to at issues that cause glare and contrast least 20 doctors. I didn’t know to ask problems that adversely affect our for troponin tests. If you feel the docs vision as well. Sunglasses can provide are missing something, force them to much help. However, most sunglass listen. Even good docs make mistakes. lenses are black, brown, gray or dark It could save your life. green which can make it very difficult Jennifer Schwartzott – New York to see well, especially with retina issues. Try sunglasses that have dark

20 UMDF Connect | Fall 2015 development

Corporate Partnership Spotlight

UMDF Corporate Partnership provides your organization with the opportunity to reinforce your brand image with a health and wellness-minded audience, to increase image awareness and name visibility for your services and products, and to generate goodwill throughout the community. You can accomplish this while helping a very worthy cause.

any UMDF Corporate Partners are personally tied to our mission, like Staples Oil Co., Inc. of Jackson, MMinnesota. Brent and Nicole Staples are cousins to an affected family and have actively supported the Minnesota Energy for Life Walk since 2010.

The Staples Oil Co. partnership goes far beyond their financial support of the EFL. Their annual Dairy Queen and BP Expressway fundraiser is promoted on the local radio station and in newspapers. They seek donations from other local businesses and “give back” a free cone for every dollar donated from the local community. Staples Oil employees participate on their walk team and educate customers about mitochondrial disease. Brent and Nicole say the partnership has given back to them as well.

“We have been honored to partner with the UMDF over the last five years to help raise money for such an important cause. Teaming up with Andy, Lindsay and Sylvia of Leo’s Lions for our annual fundraising event has been a wonderful way to raise awareness and money in memory of Leo Chapman-Nesseth, both causes that are personally important to us. It has provided us a way to get the community involved in supporting Leo’s Lions each and every year, and we are thankful to our family and friends in the Jackson, MN, community that have helped to make this such a success.”

If you would like more information about Corporate Partnership opportunities, please contact the UMDF Development team at [email protected].

UMDF Connect | Fall 2015 21 development

Donor Spotlight July 1, 2015 - September 30, 2015

$49,999 - $10,000 Mr. and Mrs. Michael Grealish $999 - $500 Mr. Patrick Kelley Mr. and Mrs. Edward Hardison Stephen Alkus Mr. Jason Schmid Ms. Claire Hardon Mr. and Mrs. Andy Anderson Miss Cindy Holt Mr. and Mrs. James Andersen $9,999 - $5,000 Mr. and Mrs. Gary Huselton Mrs. Hannah Appel Mr. Joseph Auth Mrs. Marian Iak Mr. Stewart Appelrouth Mr. Jon Armstrong Ms. Angelina Foglia Ms. Joanne Kelley Ms. Vicki Bain Miss Marni Gittinger Ms. Alice Kellington Mr. Kevin Belcher Mr. and Mrs. Nicholas Koch Mr. and Rep. John Kieffer Ms. Lorraine Biscardi Dr. Annette St. Pierre-MacKoul Mr. and Mrs. and Mrs. Bob Kukla Ms. Dana Bookey Mr. Brent Staples Mr. Tom Lewis Mrs. and Mr. Meghan Burns Mr. Paul Lovullo Mr. Tyler Chapman $4,999 - $1,000 Mr. Don Lundy Ms. Kristie Chauvin Mr. Greg Alexander Mrs. Victoria Marcinkevich Mr. Stephen Cobb Mr. Anthony Baldi Mr. Martin Mathews Mr. Matthew Crothamel Mr. John Belk Mr. Stephen Miller Mr. Dean Czuma Ms. Valerie Biscardi Mr. and Mrs. Charles Mohan, Jr. Dr. Michael Eigenberg Ms. Kathryn Blank Mr. Steve Mueller Mr. and Mrs. Tom Ekman Lane Booker Mrs. Carrie Mullin Mr. Bill Fisher Mr. Tim Boyle Mr. Martin Packouz Mrs. Diane Fluty Mr. and Mrs. Rich Brotherton Dr. Michelle Snyderman Platt Mr. Rob Fogel Mr. and Mrs. Brian Carter Ms. Sarah Poplack Mr. Anthony Foglia Mr. and Mrs. Ronald Christenson Mr. and Mrs. Andrew Reardon Ms. Kristin French Dr. Jayshree Ganatra, MD Mrs. Lynn Clark Ms. Cristina Rue Ms. Marissa Garcia Dr. and Mrs. Bruce Cohen, MD Mr. and Mrs. Don Ryan Ms. Julie Gibbons Mr. William Daniel Mr. David Sills Ms. Renee Granos Mr. and Mrs. William Diaz Mr. and Mrs. Peter Stathakis Mr. and Mrs. Bill Graves Rep. Gene DiGirolamo Mrs. Jana Twigg Mr. Michael Hall Mr. Jim Dooley Mr. Steven Umhoefer Mr. and Mrs. E. Blanton Hamilton, Jr. Tracy Dunleavey Mrs. Jo Ann Walsh Mr. Louis Hazel Mrs. Elisabeth Ebert Mrs. Sylvia Wilhelm Mr. Jacinto Hernandez Mr. and Mrs. Michael Foglia Mr. and Mrs. W. Dan Wright Ms. Jacqueline Herring Mr. and Mrs. Milton Forman Mr,.Kevin Hummel Mr. and Mrs. Joe Goodman Mr. Michael Huntress Mr. and Mrs. Stephen Graham Mr. Bob Huson Mr. and Mrs. David Gray Mrs. Jill Jansen

22 UMDF Connect | Fall 2015 development

Dr. and Mrs. Joel Kavan Mr. Paul Miller Capt. Robyn Shumsky Mr. Peter Kelley Mr. Gary Moberly Mr. David Smith Ms. Kathy Kerrigan Ms. Sara Nainzadeh Mr. Richard Smith Mr. and Mrs. Christopher Kindbom Mr. John Nowak Mr. David Snyder Dr. Napoleon Knight, MD Mr. John Ordway Ms. Patty Stageman Ms. Jody Kusek Mr. Steven Pavlons Mr. Julius Steinsapir Mrs. Cheryl Landes Mr. William Rainaldo Mr. Bob Strasser Ms. Brandie Landry Mr. and Mrs. Ronald Rathsam Mr. Michael Sukonik Ms. Nancy Loberg Mr. and Mrs. Earl Rausch Mr. James Volker Trustee Mr. Frank Lorenz Ms. Paula Records Mr. Andrew Weibel Ms. Jennifer Malecha Mr. and Mrs. Joseph Rice The Whitehouse Family Mr. Greg Marks Mr. and Mrs. Dan Richardson Mrs. Sara Wolfson Mr. Steven Martinez Mr. Richard Robuck Ms. Sunnie Wong Mr. and Mrs. Joe Marx Dr. Sheryll Rockway Mrs. Kathryn Wooten Mr. and Mrs. Paul Maurer Mr. Daniel Rogers Mr. and Mrs. Ryan Wright Mr. John McEnroe Ms. Pamela Sams Mr. Ronny Wurtzburger Mr. John McLoughlin Ms. Marlene Schilling

Visit us at www.solacenutrition.com Save the Date!

Mitochondrial Medicine 2016: Seattle

Scientific Program: June 15 - 18, 2016 Family Program: June 17 - 18, 2016

Doubletree by Hilton Seattle Airport 18740 International Boulevard Seattle, WA 98188

Research Institute

Scientific Course Chair: CME Chair: 888-205-3420 Russell Saneto, DO, PhD Bruce H. Cohen, MD umdf.org Seattle Children’s Hospital / University of Washington Akron Children’s Hospital

888-205-3420 umdf.org

UMDF Connect | Fall 2015 25

eventsUMDF The energy providing education, support and research.

Fundraisers Benefitting the UMDF

July 31, 2015 – Run 4 Raley was once August 29, 2015 – UMDF members had NC, at the Gallery of Fine Art. The gallery again held in Philo, IL, this year. A huge the chance to purchase passes through had a special viewing of many of Dr. turn-out led this annual event to raise over the month of August. These special Seuss’s original pieces and proceeds from $17,000! discount passes were used on Macy’s a raffle came to the UMDF. annual Shop for a Cause day! August 1, 2015 – The Annual Softball September 19, 2015 – The Run Bryn tournament “Baylee’s Ball Bash” was held August 30, 2015 – EFL: Charlotte team Athyn 5k took place in Bryn Athyn, PA, as in Cannelville, OH! Zanebash held their very own “Zane a part of a Senior Project. All funds raised Bash”! The exciting event had live music benefited the UMDF. August 1, 2015 – The first Annual Carter and a silent auction in NODA at Jack Lackey Memorial Miles run was held in Beagle’s! September 19, 2015 – The Cutliff Family Waverly, NY, at Waverly Glen Park. All hosted an Awareness Walk in memory of proceeds from this event benefitted the September 1-30, 2015 – STAGE Stores their beloved Samuel. The walk was held Carter Lackey research fund through the in Shreveport, LA, selected the UMDF at the AnMed Health Track in Anderson, SC. UMDF. as their partner charity for the month of September. September 25, 2015 – A three-day video August 2, 2015 – Andrea Emery game tournament held in Greenwood, IN, jumped out of a plane to benefit her EFL September 1-30, 2015 – Aidan’s Mito was hosted by two great friends fighting Walkathon: Minnesota team Quinn’s treats was a candy sale held in Santa Ana, mitochondrial disease! Quest! CA, throughout the month of September. September 26, 2015 – The 2nd Annual August 3, 2015 – The ExpressWay BP September 10, 2015 – The 7th annual Jaxon’s Warriors 5k and Little Warrior Fun and Dairy Queen donated all proceeds CURE ride for LHON was held in Run had a new surprise this year… a 10k from Dairy Queen and $.10 off every California. Over the years, the CURE Ride option! The event raised over $15,000 for gallon of gas to benefit EFL: Minnesota guys have raised $175,000!!! the Jaxon Sharma Research Fund! team Leo’s Lions! September 12, 2015 – The annual September 26, 2015 – The Ribeiro family August 12, 2015 – Blakes Super Powered MitoBowl (formerly the EnergyBowl) was hosted a pizza party and coins and cans UMDF Fundraiser was held at Chuck E. held in Meridian, ID. for a cure fundraiser in La Mirada, CA. Cheese to benefit EFL: Detroit Blake’s Super Powered Team! September 13, 2015 – EFL: Del Val Team October 9, 2015 – The very first Ja’Nell held “Saving Squirt One Shake at Emma Frances Golf Outing was held in August 15, 2015 – Faith McColl is headed a Time,” a Zumbathon, to benefit their EFL Northborough, MA, in memory of Emma to college and has closed out an amazing team. Frances Dalton. The event raised over 10-year run of her lemonade stand! Faith $8,000, all benefitting the Emma Frances will continue fundraising at college and September 18, 2015 – Kim Clifford held a Dalton Research Fund. is also working with the UMDF to help Mary Kay fundraiser online in memory of others set up their own lemonade stands. her Fiancee’s son, Brody Bivens. October 10, 2015 – Mary Alexis Rohrer For more information about this endeavor held a yard sale in memory of her good please email Tara at [email protected]. September 18, 2015 – The second annual friend, Rachel Albertson. Carlos Alberto Memorial Golf Outing August 15, 2015 – EFL: Charlotte team was held at the Pipestone Golf Course October 11, 2015 – The Chicago “Life for Lila” held an amazingly fun in Miamisburg, OH. The event had a golf Marathon once again had a fantastic bowling event in downtown Charlotte, NC! scramble accompanied by a dinner. team supporting the UMDF! Way to go The event boasted cosmic bowling and an everyone! amazing list of prizes that were raffled off! September 18, 2015 – “Hats Off to Doctor Seuss” was held in Wilmington,

26 UMDF Connect | Fall 2015 events

The UMDF will offer a regional symposium at Upcoming Children’s Memorial Hermann Hospital in Houston, Texas, in February 2016. Symposia

Central Regional Symposium UT Health/Children’s Memorial Hermann Hospital, Houston, TX February 12-13, 2016 Full CME day on Friday for medical professionals and morning meetings on Saturday for patients/families. Course Chair: Mary Kay Koenig, MD CME Chair: Bruce H. Cohen, MD www.umdf.org/symposium/central

Southeast Regional Symposium Duke University School of Medicine, Durham, NC February 19-20, 2016 Full CME day on Friday for medical professionals and morning meetings on Saturday for patients/families. Upcoming Events Course Chairs: Dwight Koeberl, MD and Edward October 29, 2015 - A paint night will be November 14, 2015 – PLEASE NOTE Smith, MD held in Vincennes, IN. All proceeds benefit THE DATE CHANGE! The Mito Disc CME Chair: Bruce H. Cohen, MD the Brady Sterchi research fund through Golf Fundraiser will be held in Knoxville, www.umdf.org/symposium/southeast the UMDF. TN, as a part of the Knoxville Disc Golf Association. Contact Justin Forbes for Great Lakes Regional November 7, 2015 – The Radney family more information at [email protected]. Symposium is participating in the BELK Charity Sale. Mayo Clinic, Rochester, MN Participants can purchase $5 passes for December 5, 2015 – The second Annual May 20-21, 2016 $5 off of a purchase. All proceeds benefit Carter’s Christmas craft fair, raffle, and Full CME day on Friday for medical the Andrew Radney research fund through photos with Santa will be held at the Sayre professionals and morning meetings on the UMDF. Elks Club in Sayre, PA. Proceeds will Saturday for patients/families. benefit the Carter Lackey research fund Course Co-Chairs: Ralitza Gavrilova, MD and November 7, 2015 – The 7th annual Fall through the UMDF. Marc Patterson, MD into a Cure Wine Tasting and Auction CME Chair: Linda Hasadsri, MD, PhD will be held at Creek’s Edge Winery in April 9, 2016 – The first Brady’s Bunch www.umdf.org/symposium/greatlakes Lovettsville, VA. Tickets are $30 a person Miles for Mito 5k will be held in Vincennes, which includes three wine tastings IN. Please keep an eye out for more Mitochondrial Medicine and appetizers. For more information information closer to the event. 2016: Seattle – National regarding lodging and purchasing tickets, Symposium DoubleTree by Hilton, Seattle, WA please visit the website at www.umdf.org/ June 4, 2016 - The Annual Greater Mito Scientific Program -June 15-18 fallintoacure. Open (Birdies for Brianna) will be held at the Broadlands golf club in North Prairie, Family & LHON Program – June 17-18 November 11-14, 2015 – BonTon WI. Please keep an eye out for more Course Chair: Russell Saneto, DO, PhD and Carson’s Community Days will information closer to the event. CME Chair: Bruce H. Cohen, MD be taking place nationwide. You can Reserve your hotel room now! purchase a pass for special sales www.umdf.org/symposium and discounts. Proceeds benefit the UMDF. You can order your booklets here http://www.bonton.com/product/311676. For details on all UMDF Symposia visit html?utm_source=premiere&utm_ www.umdf.org/symposium. medium=htmlversion&utm_content=261561&utm_ campaign=15FCMDAYBK&ICID=15FCMDAY BK261561. UMDF Connect | Fall 2015 27 events

Upcoming EFL Walkathons ur Fall 2015 EFL Walk season is Energy for Life Charlotte www.energyforlifewalk.org/birmingham coming to a close! We had our www.energyforlifewalk.org/charlotte Saturday, Oct 17 – Charlotte Olargest season yet with 17 walk Energy for Life Columbus, GA www.energyforlifewalk.org/charlotte locations across the country! Over 350 www.energyforlifewalk.org/columbusga Saturday, Oct 24 – Columbus, GA teams came out and fundraised over Energy for Life Southwest Florida www.energyforlifewalk.org/columbusga $710,000, with more donations coming in www.energyforlifewalk.org/southwestflorida Saturday, Nov 14 – Fort Myers each day!! A special thank you to each www.energyforlifewalk.org/southwestflorida and every one of our teams, walkers, P.S. It’s not too late to make a donation or volunteers, donors, committee members to double your donation with a matching and sponsors who supported an EFL Walk gift! Ask your employer if they match gifts! this year!!! We are looking forward to our Spring Thank you to: Walks! Please help us reach those goals Energy for Life Minnesota by supporting one of these amazing cities! www.energyforlifewalk.org/minnesota Energy for Life Indianapolis Saturday, April 9 – San Francisco Bay Area www.energyforlifewalk.org/indianapolis www.energyforlifewalk.org/sanfrancisco Energy for Life Western New York Saturday, April 16 – Atlanta www.energyforlifewalk.org/westernnewyork www.energyforlifewalk.org/atlanta Energy for Life Kansas City Saturday, April 23 - Tampa Bay www.energyforlifewalk.org/kansascity www.energyforlifewalk.org/tampabay Energy for Life Central Texas Saturday, April 30 - Dallas/Fort Worth www.energyforlifewalk.org/centraltexas www.energyforlifewalk.org/dallasforthworth Energy for Life New Orleans Saturday, April 30 – St. Louis www.energyforlifewalk.org/neworleans www.energyforlifewalk.org/stlouis Energy for Life Detroit Saturday, May 1 – New England www.energyforlifewalk.org/detroit www.energyforlifewalk.org/newengland Energy for Life Delaware Valley Saturday, May 14 – Nashville www.energyforlifewalk.org/delval www.energyforlifewalk.org/nashville Energy for Life Chicago Saturday, May 14 – Cincinnati www.energyforlifewalk.org/chicago www.energyforlifewalk.org/cincinnati Energy for Life Omaha Saturday, May 21 – Pittsburgh www.energyforlifewalk.org/omaha www.energyforlifewalk.org/pittsburgh Energy for Life Southern Wisconsin TBD – Houston www.energyforlifewalk.org/southerwisconsin www.energyforlifewalk.org/houston Energy for Life Akron TBD – Shreveport/Bossier City www.energyforlifewalk.org/akron www.energyforlifewalk.org/sbc Energy for Life Seattle TBD – Evansville www.energyforlifewalk.org/seattle www.energyforlifewalk.org/evansville Energy for Life Birmingham www.energyforlifewalk.org/brimingham

28 UMDF Connect | Fall 2015 Are you looking for someone to connect with? Connect with a UMDF Ambassador, UMDF an affected individual/family member who would be happy to network with you. To get started, complete our contact form at http://secure.umdf.org/RegionalContact or call national us toll-free at 1-888-317-8633. News from the national office. CONGRATULATIONS, What UMDF region do you live in? NICOLE! Below are the UMDF’s current regional coordinators and their email addresses.

We also encourage you to stay up to date in your region by visiting the regional webpages listed below!

Northeast Region 2 Great Lakes Region 4 Nicole McCaslin Anne Simonsen [email protected] [email protected] www.umdf.org/northeast www.umdf.org/greatlakes

Southeast Region 3 Margaret Moore Congratulations to Nicole McCaslin, [email protected] UMDF Northeast Regional Coordinator, www.umdf.org/southeast and Jason McCaslin on their marriage on Saturday, July 25th!

United Mitochondrial Disease Foundation Staff Executive Staff Finance Development & Tara Maziarz Charles A. Mohan Jr. Mark Campbell Member Services Development Associate/ CEO/Executive Director Chief Financial Officer Beth Whitehouse Social Media Janet Owens Donna Nameth Director of Development Nicole McCaslin Executive Administrative Asst. Data Entry Manager Tania Hanscom Regional Coordinator - Northeast Philip Yeske, PhD Barbara Cullaj National Walk Manager Science and Alliance Officer Administrative Assistant Cassie Franklin Margaret Moore Gifts Officer Regional Coordinator - Southeast UMDF Symposia Communications Julie Hughes Development Associate/ Anne Simonsen Kara Strittmatter Clifford Gorski Regional Coordinator - Meeting Event Director Director of Communications Grants Great Lakes Jeff Gamza Multimedia Coordinator

UMDF Mission To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. The UMDF focuses on coordination, communication and collaboration. We bring people and resources together to make an impact on diagnoses, treatments and a cure for mitochondrial disease.

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